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Ring 14 chromosome presenting as early-onset isolated partial epilepsy.
Ville D, DE Bellescize J, Nguyen MA, Testard H, Gautier A, Perrier J, Till M, DES Portes V. Ville D, et al. Among authors: till m. Dev Med Child Neurol. 2009 Nov;51(11):917-22. doi: 10.1111/j.1469-8749.2009.03292.x. Epub 2009 Mar 31. Dev Med Child Neurol. 2009. PMID: 19416318 Free article.
A submicroscopic unbalanced subtelomeric translocation t(2p;10q) identified by fluorescence in situ hybridization: fetus with increased nuchal translucency and normal standard karyotype with later growth and developmental delay, rhombencephalosynapsis (RES).
Lespinasse J, Testard H, Nugues F, Till M, Cordier MP, Althuser M, Amblard F, Fert-Ferrer S, Durand C, Dalmon F, Pourcel C, Jouk PS. Lespinasse J, et al. Among authors: till m. Ann Genet. 2004 Oct-Dec;47(4):405-17. doi: 10.1016/j.anngen.2004.07.005. Ann Genet. 2004. PMID: 15581840
Mosaic 18q21.2 deletions including the TCF4 gene: a clinical report.
Rossi M, Labalme A, Cordier MP, Till M, Blanchard G, Dubois R, Guibaud L, Heissat S, Javouhey E, Lachaux A, Mure PY, Ville D, Edery P, Sanlaville D. Rossi M, et al. Among authors: till m. Am J Med Genet A. 2012 Dec;158A(12):3174-81. doi: 10.1002/ajmg.a.35588. Epub 2012 Nov 19. Am J Med Genet A. 2012. PMID: 23165966
Molecular characterization of a cohort of 73 patients with infantile spasms syndrome.
Boutry-Kryza N, Labalme A, Ville D, de Bellescize J, Touraine R, Prieur F, Dimassi S, Poulat AL, Till M, Rossi M, Bourel-Ponchel E, Delignières A, Le Moing AG, Rivier C, des Portes V, Edery P, Calender A, Sanlaville D, Lesca G. Boutry-Kryza N, et al. Among authors: till m. Eur J Med Genet. 2015 Feb;58(2):51-8. doi: 10.1016/j.ejmg.2014.11.007. Epub 2014 Dec 11. Eur J Med Genet. 2015. PMID: 25497044
Whole-exome sequencing improves the diagnosis yield in sporadic infantile spasm syndrome.
Dimassi S, Labalme A, Ville D, Calender A, Mignot C, Boutry-Kryza N, de Bellescize J, Rivier-Ringenbach C, Bourel-Ponchel E, Cheillan D, Simonet T, Maincent K, Rossi M, Till M, Mougou-Zerelli S, Edery P, Saad A, Heron D, des Portes V, Sanlaville D, Lesca G. Dimassi S, et al. Among authors: till m. Clin Genet. 2016 Feb;89(2):198-204. doi: 10.1111/cge.12636. Epub 2015 Jul 30. Clin Genet. 2016. PMID: 26138355
West syndrome caused by homozygous variant in the evolutionary conserved gene encoding the mitochondrial elongation factor GUF1.
Alfaiz AA, Müller V, Boutry-Kryza N, Ville D, Guex N, de Bellescize J, Rivier C, Labalme A, des Portes V, Edery P, Till M, Xenarios I, Sanlaville D, Herrmann JM, Lesca G, Reymond A. Alfaiz AA, et al. Among authors: till m. Eur J Hum Genet. 2016 Jul;24(7):1001-8. doi: 10.1038/ejhg.2015.227. Epub 2015 Oct 21. Eur J Hum Genet. 2016. PMID: 26486472 Free PMC article.
256 results